Posts by: Jose Marques Lopes, PhD

Jose Marques Lopes, PhD

January 17, 2019January 17, 2019

Restoring Protein’s Levels May Correct Frataxin Deficiency and Mitochondrial Changes in FA, Study Suggests

News

Increasing the amount of a protein called GRP75 repairs the characteristic Friedreich’s ataxia (FA) frataxin deficiency and mitochondrial alterations, according to a study in patient-derived and mouse cells. The study, ... Read more

January 3, 2019January 3, 2019

Correcting Just Half the Heart Muscle Cells Fully Restores Cardiac Function in Friedreich’s Ataxia Mice

News

A gene therapy approach to increase the amount of the critical frataxin protein shows that correcting only half of the heart muscle cells, or cardiomyocytes, is enough to fully ... Read more

October 23, 2018October 23, 2018

Damage to Spinal Cord, Brain in Children Suggests FA Is Not Strictly Neurodegenerative, Researchers Say

News

Central nervous system (CNS) damage in Friedreich’s ataxia (FA) starts in the spinal cord and specific brain areas in children, progressing to more widespread white and grey matter injury ... Read more

October 11, 2018October 11, 2018

Fly Study Identifies Two Medications That May Be Cardioprotective for FA Patients

News

Pharmacological screening in a fly cardiac model of Friedreich’s ataxia (FA) identified 11 potentially protective compounds. The two most promising are the anti-inflammatory Azulfidine (sulfasalazine)  and the antidepressant Luvox (fluvoxamine), according to the ... Read more

September 4, 2018September 4, 2018

Case Report Describes Early FA Onset in Boy with Rare Gene Mutation

News

A new case report describes a 7-year-old boy with Friedreich’s ataxia (FA) who has a particularly early age of disease onset and an extremely rare type of mutation in ... Read more

August 28, 2018August 28, 2018

GAITRite Walkway System Is Seen as Reliable Assessment Tool in Young FA Patients, Study Reports

News

A walkway system called GAITRite is a reliable and feasible method to assess gait in young patients with Friedreich’s ataxia (FA), according to a new study. FA patients showed ... Read more

August 7, 2018August 7, 2018

Antioxidants Increase Frataxin Levels in Friedreich’s Ataxia Cells, Study Reports

News

Specific antioxidant compounds and derivatives were able to boost levels of the protein frataxin in cells from Friedreich’s ataxia (FA) patients, according to researchers from Arizona State University in Tempe. Their study, ... Read more

July 26, 2018July 26, 2018

Synthetic Molecules Normalize Frataxin Protein Levels in Cells from FA Patients, Study Reports

News

Synthetic molecules targeting the hallmark gene mutation in Friedreich’s ataxia (FA) were able to restore frataxin protein levels to normal in cells taken from patients, a study has found. ... Read more

July 17, 2018July 17, 2018

Atrophy Along Spine and in Specific Brain Areas Linked to Clinical Decline in FA Patients, Study Reports

News

Patients with Friedreich’s ataxia (FA) have smaller spinal cords and evidence of atrophy in specific areas of the brain — differences that, in their degree, work to help predict ... Read more

July 5, 2018July 5, 2018

Novoheart Develops New Models of Cardiac Dysfunction in Friedreich’s Ataxia

News

Novoheart, in partnership with Pfizer, has created new models of cardiac dysfunction in Friedreich’s ataxia (FA) using human stem cells as the basis, the company announced. These models are part of ... Read more

June 5, 2018June 5, 2018

Gene Therapy Fully Reverses Friedreich’s Ataxia Changes in Mouse Model, Study Shows

News

A gene therapy approach to deliver frataxin, the protein that’s deficient in Friedreich’s ataxia (FA) patients, was able to reverse disease-related changes in a new mouse model of the ... Read more

May 17, 2018May 17, 2018

Breath Testing Shows Promise as Reliable, Simple Method for Diagnosing FA, Other Diseases

News

Breath testing holds potential as an accurate, simple, and noninvasive diagnostic tool for Friedreich’s ataxia (FA) and other neurodegenerative diseases, a review suggests. The study, “Emergence of breath testing as ... Read more

May 10, 2018May 10, 2018

Clinical Management of Adult Siblings with FA Described in Case Report

News

The clinical management of two siblings with Friedreich’s ataxia (FA) involved multiple approaches, including physical and occupational therapy, medications, orthopedic devices, and nutritional supplements, according to a report from clinicians ... Read more

April 24, 2018April 24, 2018

FA Patients Show Gradual Worsening of Certain Auditory Responses, Study Says

News

Researchers have found that patients with Friedreich’s ataxia (FA) show progressive deterioration of auditory neural responses to ongoing acoustic stimulation. The study titled “Rapid exhaustion of auditory neural conduction ... Read more

April 17, 2018April 17, 2018

#AAN2018 – FA Patients Show Gradual Decline in Visual Acuity Over Time, Study Finds

News

Researchers found that patients with Friedreich’s ataxia (FA) show a gradual reduction in low-contrast visual acuity over time. This decline is more pronounced in those with higher numbers of ... Read more

March 27, 2018March 28, 2018

Study Describes Pitfalls of FA Genetic Tests, Possible Need for More Analysis

News

Researchers report that genetic tests for Friedreich’s ataxia (FA) are complex and may require additional screening in cases of typical clinical presentation. The study, “Pitfalls in molecular diagnosis of Friedreich ... Read more

March 20, 2018March 20, 2018

Bone Marrow Transplants Promote Nerve Cell Repair in Mice with Friedreich’s Ataxia, Study Shows

News

Bone marrow transplants led to nerve cell restoration in a mouse model of Friedreich’s ataxia (FA), a study showed. Benefits included improvements in movement, less nervous system damage, and ... Read more

February 22, 2018

More Efficient Gene Therapy Vectors Found That May Help Disorders Like FA

News

Researchers at UNC School of Medicine described crucial structural features that enable gene therapy vectors to reach the brain. The discovery is key for neurological diseases with ongoing gene therapy ... Read more

February 8, 2018

Uric Acid Levels May Be Biomarker for Friedreich’s Ataxia, Study Suggests

News

Serum uric acid (UA) levels are increased in Friedreich’s ataxia patients and may be a disease biomarker as well as a new therapeutic target, Italian researchers suggests. Their study, ... Read more

February 6, 2018

New Analytical Method Reliably Detects Frataxin, Researchers Report

News

Researchers are developing a new analytical method, using patients’ platelets, that enables rigorous quantification of frataxin, the protein lacking in patients with Friedreich’s ataxia (FA). Findings of the study ... Read more

August 31, 2017August 31, 2017

FDA Grants Jupiter’s Jotrol Orphan Drug Status as Potential Therapy for Friedreich’s Ataxia

News

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Jotrol, a potential new therapy for Friedreich’s ataxia (FA), says the medication’s developer, Jupiter Orphan Therapeutics. ... Read more

August 17, 2017

Chondrial’s CTI-1601, a Potential Therapy for FA, Granted Orphan Drug Status by FDA

News

Chondrial Therapeutics‘ CTI-1601, an investigative therapy for Friedreich’s ataxia (FA), has been granted orphan drug status by the U.S. Food and Drug Administration (FDA). “We are very pleased to receive ... Read more

April 4, 2017April 4, 2017

Turkish Scientists Find Signs of FA and SCA in Patients Diagnosed with Hereditary Cerebellar Ataxia

News

A Turkish study has classified the genetic and observable characteristics of Friedreich’s ataxia (FA) and spinocerebellar ataxia (SCA) in patients diagnosed with hereditary cerebellar ataxia. The study, “Determination of Genotypic ... Read more